Glossary of Terms

Glossary of Terms

Actinic keratosis: A premalignant warty lesion occurring on the sun-exposed skin of the face or hands in aged, light-skinned people; treatment includes cryotherapy, surgical excision, or topical chemotherapy (Stedman’s)

Aldara: see imiquimod

Aminolevulinic acid (ALA): Aminolevulinic acid, a naturally occurring chemical in the body that is converted to protoporphyrin IX, a light-sensitive compound. Aminolevulinic acid has been used in the photodynamic therapyof skin precancer and cancer. (

Amniocentesis: procedure performed at 15-17 weeks’ gestation; amniotic fluid contains fetal cells, which can be examined for chromosomal abnormalities, and may contain biochemical markers of inherited disease (Stedman’s)

Anesthesia: loss of sensation resulting from pharmacological depression of nerve function or from neurologic dysfunction; may be local, topical, general, or regional depending on the affected area (Stedman’s)

Anticoagulants: an agent to prevent coagulation or clotting of the blood (Stegman’s)

Anticonvulsant: an agent preventing or arresting seizures (Stegman’s)

Autosomal dominant disease: a disease caused by a dominant mutant (abnormal) gene on an autosome (nonsex chromosome). Evidence of the disorder may not occur for several decades. The mutant gene is inherited from one or both parents or is the result of a fresh mutation. If both parents have the mutant dominant gene, all offspring will be affected; if one parent is affected, 50% of the offspring will be affected; the normal children of an affected parent do not carry the trait.

Basal Cell Carcinoma (BCC): a slow-growing, malignant, but usually non-metastasizing epithelial neoplasm of the epidermis or hair follicles, most commonly arising in sun-damaged skin of the elderly and fair-skinned. (Stegman’s)

Basal Cell Carcinoma Nevus Syndrome: a syndrome of numerous basal cell nevi with development of basal cell carcinomas in adult life, odontogenic keratocysts (keratocystic odontogenic tumors), erythematous pitting of the palms and soles, calcification of the cerebral falx, and frequently skeletal anomalies, particularly ribs that are bifid or broadened anteriorly; autosomal dominance inheritance (Stegman’s)

Basal cell nevus syndrome: See Basal Cell Carcinoma Nevus Syndrome

Benign: Denoting the mild character of an illness or the nonmalignant character of a neoplasm (tumor) (Stegman’s)

Beselna: See Imiquimod

Bifid: split or cleft; separated into two parts (Stegman’s)

Biopsy: process of removing tissue from living patients for macroscopic examination; a specimen obtained by brush or needle and syringe aspiration for biopsy (Stegman’s)

Biparietal bossing: the protuberance of both parietal bones (the bones forming the top and side of the skull [barrion’s]) (Stegman’s)

Cachexia: Loss of body weight and muscle mass. Patients with advanced cancer and other chronic diseases may develop cachexia from poor absorption of nutrients and other reasons.

Calcification: a process in which tissue or non-cellular material in the body becomes hardened as the result of precipitates or larger deposits of insoluble salts of calcium

Carac: see Fluorouracil

Cardiac fibroma: a fibroma (benign tumors that are composed of fibrous or connective tissue) of the heart

Cardiologist: physician specializing in the diagnosis and treatment of heart disease

Carnoy’s solution: A fixative composed of ferric chloride, ethanol, chloroform, and acetic acid. Carnoy’s solution is often used in the treatment of jaw cysts to prevent decay or infection around the surgical site.

Cataract: complete or partial opacity of the ocular lens (Stegman’s)

Celebrex: see celecoxib

Celecoxib: An anti-inflammation medication also known as Celebrex. Research is underway to determine if it can also help combat BCCs, among other kinds of cancer.

Central nervous system (CNS): body system comprised of the brain and nervous system

Chemosurgery: excision of diseased tissue after it has been fixed in situ by chemical means

Chemotherapy: treatment of disease by means of chemical substances or drugs; usually used in reference to neoplastic disease (Stegman’s)

Chorionic villus sampling (CVS): A biopsy of the frondosum through the abdominal or through the endocervical canal at 6-12 weeks gestation to obtain fetal cells for diagnosis of chromosomal abnormalities (Stegman’s)

Craniofacial: relating to both the cranium and the face

Cryosurgery: Sometimes called cryotherapy, cryosurgery uses extreme cold (usually involving liquid nitrogen) to freeze and destroy cancerous cells, warts, moles, and other similar skin problems. Cryosurgery can be preferable to other treatments because it often involves less pain and scarring than some other methods.

Cryotherapy: a type of care in which ice or cold water is applied to a body part

Cryptochidism: literally means hidden or obscure testis and generally refers to an undescended or maldescended testis

Cyst enucleation: the removal of all tissue from a cystic lesion

D-aminolevulinic acid: A photosensitive compound used in photodynamic therapy.

Decompression: A surgical procedure used in the treatment of jaw cysts. A slit is cut into the cyst, which is then sutured open, and a drain is inserted. The patient then washes the drain out twice a day with saline solution or tap water, and the cyst slowly decreases in size, sometimes vanishing completely.

Dentist: a legally qualified practitioner of dentistry or the healing science and art of oral-facial complexes

Dermatologist: a physician who specializes in diagnosing and treating cutaneous and related systemic diseases

Dysplasia: A group of non-cancerous cells that look abnormal under a microscope.

Efudex (Fluorouracil): See fluorouracil

Electrodessication and curettage (ED & C): A surgical procedure that uses an electric current to burn the tissue of a cancerous lesion. A round knife, called a curette, is used to scrape away the burned tissue, and the process is repeated until the lesion is completely removed (along with a small margin of healthy tissue, to make sure that the lesion is entirely removed).

Fibroblast: a stellate or spindle shaped cell with cytoplasmic properties present in connective tissue, capable of forming collagen fibers

Fibroid: A benign tumor, usually found in the uterine wall or digestive system.

Fluoroplex: see fluorouracil

Fluorouracil: Also known as Carac, Efudex or Fluoroplex, fluorouracil is a drug used in chemotherapy treatments, usually administered along with leucovorin (folinic acid). Used as a topical cream, it can be used to treat basal cell carcinomas by preventing the cancer cells from dividing properly.

Frontal bossing: protuberance of the frontal bone or forehead

Gene sequencing (DNA sequencing): A process that allows scientists to determine the order of various bases in a molecule of DNA. This process can be used to determine whether the person whose DNA it is, is susceptible to disorders such as BCCNS.

Genetic counseling: Advice from a specially trained counselor about the connection between your genetic make-up and the likelihood of various diseases. After gathering information about your family history and personal health, the counselor can help you make decisions about your health, raising a family, etc.

Genitourinary system: relating to the organs of the reproductive and urinary systems

Germline mutation: A genetic mutation that occurs in germ cells (sex cells). A mutation in a somatic (body) cell will not be passed along to children, but a germline mutation will. Germline mutations account for a certain percentage of new cases of BCCNS.

Glaucoma: a disease of the eye associated with eye pressure and excavation and atrophy of the optic nerve that produces defects in the visual field; could result in blindness

Gorlin syndrome: see Basal Cell Carcinoma Nevus Syndrome

Gorlin, Robert J.: A professor and researcher at the University of Minnesota who conducted a lot of research into disorders of the face and head. His research provided a lot of information about the signs and symptoms of BCCNS, which is why it is also referred to as Gorlin syndrome.

Gorlin–Goltz syndrome: see Basal Cell Carcinoma Nevus Syndrome

Gynecologist: a physician specializing in conditions and diseases of the female genital tract

Gynecomastia: excessive development of the male mammary glands

Hallux valgus: a deviation of the tip of the great toe or main axis of the toe toward the outer or lateral side

Hedgehog signaling pathway: A genetic mechanism that governs embryo growth and development. Normally, this pathway is “turned off” when a baby is born. A mutation of the PTCH-1 gene, which regulates this pathway, results in the pathway staying active and continuing to direct cells to grow; this then results in the various tumors and growth problems present in BCCNS.

Hemangioma: a congenital anomaly in which proliferation of blood vessels leads to a mass that resembles a neoplasm; can occur anywhere in the body

Hypertelorism: abnormal distance between two paired organs

Imiquimod: Also known as Aldara or Beselna, Imiquimod is a prescription drug that triggers an immune response against various skin cancers and actinic keratosis. Patients with Gorlin syndrome are sometimes prescribed Imiquimod to treat their multiple basal cell carcinomas.

Immunotherapy: Medical treatment that stimulates the immune system to fight infection or disease. It can also help bolster the immune system in response to various cancer therapy side-effects.

In vitro fertilization: From a Latin phrase meaning “in the glass,” this process starts with the harvesting of egg cells from the mother and sperm cells from the father. The eggs are then fertilized in a laboratory. A healthy embryo can then be implanted in the mother’s uterus to develop normally.

Ionizing radiation: corpuscular or electromagnetic radiation of sufficient energy to ionize irradiated material

Keloid: A thick scar composed mostly of collagen. While a keloid is benign and non-contagious, it may cause itchiness or pain and affect the movement of the skin.

Keratocystic odontogenic tumor: odontogenic tumor derived of the ddental lamina and appearing as a unilocular of multilocular radiolucency that may produce jaw expansion

Knudson “two-hit”: A theory advanced by Alfred G. Knudson in 1971, stating that cancer is caused by multiple mutations to a cell’s DNA. One “hit” would have to activate a gene to set off cell growth, while another would be needed to disable a tumor suppressor gene. In an inherited condition like Gorlin syndrome, the first “hit” to the DNA is already present, because the PTCH-1 tumor suppressor gene is already disabled.

Kyphoscoliosis: kyphosis (hunching of the back due to a curvature in the spine) combined with scoliosis (sideways curvature of the spine); congestive heart failure is a late complication

Lesion: An area of abnormal tissue change, such as a wound, a tumor, etc.

Levulan: See d-aminolevulinic acid

Macrocephaly: the feature of an enlarged head

Malignant: Cancerous. A malignant tumor is growing uncontrollably, with a high risk of spreading its cells through normal tissue into other parts of the body (a process called metastasis).

Mandible: the u-shaped bone forming the lower jaw

Marsupialization: A surgical procedure similar to decompression, but instead of a drain being inserted into the cyst, the tissue is sutured to the patient’s skin, leaving it open to the air. The name comes from the way the end result looks like a pouch (say, on a kangaroo).

Maxilla: an irregularly shaped bone supporting the upper jaw

Medulloblastoma: a tumor consisting of neoplastic cells that resemble the undifferentiated cells of the primitive medullary tube, located in the vermis of the cerebellum and occur most frequently in children

Meningioma: a benign tumor of the meninges, or the covering of the brain and spinal cord

Metastasis: The spread of a disease from one organ to another. Malignant cancers have a chance of metastasizing and spreading through the body, making an already troublesome disease even worse.

Metvix: A photosensitive drug used in photodynamic therapy.

Milia: a small keratin cyst commonly found around the eyes

Mohs surgery: Sometimes called chemosurgery, Mohs surgery is used in the removal of basal cell carcinomas to make sure that the lesions are entirely removed. The excised (removed) portion of skin is examined to make sure that no cancer cells can be found along the edge. If any cancer remains, the position is noted and more tissue is removed from that area until no more cancerous cells are found. The site of the excision is then repaired with skin grafts or by other methods. Mohs procedures are more expensive than regular excisions, but the cure rate is higher.

Multiple basal cell carcinoma syndrome: see Basal Cell Carcinoma Nevus Syndrome

Neoplasm: From the Greek words for “new growth,” a neoplasm is a collection of cells that are growing in an uncontrolled way. A neoplasm will generally form a lump of tissue known as a tumor.

Neurocutaneous syndrome: see Phakomatosis

Neurologist: A doctor who specializes in studying, diagnosing, and treating disorders of the brain and nervous system.

Neurosurgeon: a surgeon specializing in operations of the nervous system

Nevoid Basal Cell Carcinoma Syndrome: See Basal Cell Carcinoma Nevus Syndrome

Nevus: a circumscribed malformation of the skin, especially one that is colored by hyperpigmentation or increased vascularity

Odontogenic Keratocysts: See Keratocystic Odontogenic Tumor

Oncogene: A gene that controls cell growth. A mutation or other problem with an oncogene can result in cells growing out of control, which then leads to cancer.

Oncologist: A doctor who specializes in treating people with cancer. Oncologists may specialize by the type of cancer they treat or how they treat it.

Opthamologist: a medical specialist who treats diseases of the eye medically and surgically

Oral surgeon: dental surgeon

Ovarian cyst: a cystic tumor of the ovary, either benign or malignant

Palliative therapy: Treatment to improve a patient’s condition and relieve symptoms. Palliative therapy may be used together with attempts to cure a patient of cancer, or it may be used to improve a patient’s quality of life when the cancer is incurable.

Palmar pit: Small pits appearing in the skin on the palms of the hand and soles of the feet

Panorex: A two-dimensional X-ray that shows the entire upper and lower jaws all on one film. Short forPANORamic X-ray.

Patched gene (PTCH-1, 9q22.3): A gene, found on the ninth chromosome in humans, that governs the hedgehog signaling pathway. Mutations in the Patched gene are responsible for the development of Gorlin syndrome.

Pathologist: A doctor who inspects tissue and fluid samples for signs of disease. If a disease is found, the pathologist files a pathology report, which describes the nature and extent of the disease.

Pectus carinatum: flattening of the chest on either side with forward projection of the sternum resembling the keel of a boat

Pectus excavatum: a hollow at the lower part of the chest

Pediatrician: a specialist concerned with the treatment of children in health and disease throughout development

Pedigree: A family history that traces marriages, births, and deaths, including both ancestors and descendants. This can be used to trace a family’s tendency toward a certain disease.

Peripheral ostectomy: removal of supporting boney structure to eliminate periodontal pockets

Phakomatosis: Also called a neurocutaneous syndrome, a phakomatosis is a neurological disorder that also results in problems of the skin and eyes. Gorlin syndrome is referred to as the “fifth phakomatosis.”

Photodynamic Therapy (PDT): A relatively recent development in the treatment of various cancers. A photosensitive drug (one that reacts to certain wavelengths of light) is applied to the tumor site, where it is absorbed by the cancerous cells. Surgeons then shine light of the needed wavelength onto the area, activating the drug and destroying the cancerous cells. The tumor will then scab over and flake away, sometimes painfully, but the area will heal up and leave healthy skin behind. The patient should avoid excessive exposure to sunlight after undergoing PDT.

Placebo: A pill or treatment that is exactly like the real thing, except that it is completely inert. A placebo is given either to a patient who demands a medicine in order to feel better, or to study whether the real pill or treatment has any effect other than mental reassurance. From a Latin word meaning acceptable.

Plantar pit: Small pits appearing in the skin on the palms of the hand and soles of the feet

Plastic surgeon: a surgeon specialized with the restoration, construction, reconstruction or improvement in the shape and appearance of body structures

Polydactyly: presence of more than five fingers or toes on hand or foot

Pre-implantation genetic diagnosis (PGD): Genetic testing of embryos produced through in vitro fertilization to screen for various genetic disorders. The embryos produced in vitro are tested for Gorlin syndrome, and an embryo without the syndrome can be chosen for implanting.

Prognosis: How a patient is expected to fare, based on the stage of disease and what sort of treatment has been administered.

Recurrence: When a cancer or tumor reappears after treatment. Many KCOTs and skin cancer lesions in the Gorlin syndrome community are new occurrences, rather than recurrences.

Remission: The decrease or complete disappearance of cancer symptoms. Remission may be partial or complete.

Sarcoma: Cancer of the connective or supportive tissue: e.g., fat, muscle, bone, or blood vessels.

Skin graft: Taking skin from one part of the body and applying it to another.

Somatic mutation: Changes to an individual’s DNA that occur after conception. These mutations can happen in any cell except for the germ cells, so they won’t be passed on to the next generation (whereas a germline mutation will).

Sprengal deformity: congenital elevation of the shoulder blade, or the placement of the shoulder blades on the upper part of the back

Stent: A device inserted into a body structure in order to help hold it open.

Strabismus: a manifest lack of the visual axes of the eyes

Syndactyly: any degree of webbing or fusion of fingers or toes

Topical chemotherapy: The use of chemotherapy drugs in a cream or lotion to treat skin cancer lesions.

UV light: electromagnetic rays that transmit at a higher frequency than visible violet light; known to damage exposed skin cells and trigger the development of skin carcinomas

Vismodegib: ERIVEDGE® (vismodegib) capsule is a hedgehog pathway inhibitor indicated for the treatment of adults with metastatic basal cell carcinoma, or with locally advanced basal cell carcinoma that has recurred following surgery or who are not candidates for surgery, and who are not candidates for radiation